NM_000051.4(ATM):c.4451del (p.Met1484fs) AND Ataxia-telangiectasia syndrome

Clinical significance:Likely pathogenic (Last evaluated: Dec 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000671705.1

Allele description [Variation Report for NM_000051.4(ATM):c.4451del (p.Met1484fs)]

NM_000051.4(ATM):c.4451del (p.Met1484fs)

Gene:
ATM:ATM serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
11q22.3
Genomic location:
Preferred name:
NM_000051.4(ATM):c.4451del (p.Met1484fs)
HGVS:
  • NC_000011.10:g.108292633del
  • NG_009830.1:g.74802del
  • NM_000051.4:c.4451delMANE SELECT
  • NM_001351834.2:c.4451del
  • NP_000042.3:p.Met1484fs
  • NP_001338763.1:p.Met1484fs
  • LRG_135:g.74802del
  • NC_000011.9:g.108163360del
  • NM_000051.3:c.4451delT
Protein change:
M1484fs
Links:
dbSNP: rs1555099760
NCBI 1000 Genomes Browser:
rs1555099760
Molecular consequence:
  • NM_000051.4:c.4451del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001351834.2:c.4451del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Ataxia-telangiectasia syndrome (AT)
Synonyms:
Louis-Bar syndrome; Cerebello-oculocutaneous telangiectasia; Immunodeficiency with ataxia telangiectasia; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008840; MedGen: C0004135; Orphanet: 100; OMIM: 208900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000796707Counsylcriteria provided, single submitter
Likely pathogenic
(Dec 28, 2017)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Counsyl, SCV000796707.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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